New England Journal of Medicine · 1976 · 145 citations · 18 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPrenatal DiagnosisGenetic DisordersPrenatal Diagnosis Of HemoglobinopathiesPrenatal Genetic DiagnosisPrenatal Molecular TestingAlpha Thalassemia Prenatal DiagnosisComplementary Dna AmplificationDna Hybridization AssaysDna Hybridization DetectionMolecular Diagnosis Of HemoglobinopathiesPrenatal Molecular Diagnosis
The technic of DNA-DNA hybridization was used for prenatal diagnosis of a pregnancy at risk for homozygous alpha-thalassemia. Fibroblasts were cultured from amniotic fluid, and the number of alpha-globin genes in the DNA was quantified by hybridization with radioactive DNA complementary to alpha-globin mRNA sequences. As compared to control studies of DNA from patients with alpha-thalassemia syndromes and from unaffected subjects, the results indicated that the fetus had alpha-thalassemia-1. The diagnosis was confirmed by umbilical-cord blood studies.
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ALPHA‐ AND BETA‐THALASSEMIA IN THAILAND*
Prawase Wasi, S Na-Nakorn, S. Pootrakul et al. · Annals of the New York Academy of Sciences · 1969 · 195 citations
Medicine, Genetics, Hematology +10
Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci
Yuet Wai Kan, A M Dozy, Harold Varmus et al. · Nature · 1975 · 163 citations